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Q37493035-6A0F0DD6-9A1C-43F7-B372-5E0A6E36069C
Q37493035-6A0F0DD6-9A1C-43F7-B372-5E0A6E36069C
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http://www.wikidata.org/entity/statement/Q37493035-6A0F0DD6-9A1C-43F7-B372-5E0A6E36069C
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
P2860
Q37493035-6A0F0DD6-9A1C-43F7-B372-5E0A6E36069C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37493035-6A0F0DD6-9A1C-43F7-B372-5E0A6E36069C
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wasDerivedFrom
5f3ed87f92d8fa0a28e101f312749d20bdaf422b
P2860
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.